Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction

Lysosomes contribute to cellular homeostasis via processes including macromolecule degradation, nutrient sensing, and autophagy. Defective proteins related to lysosomal macromolecule catabolism are known to cause a range of lysosomal storage diseases; however, it is unclear whether mutations in prot...

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Veröffentlicht in:	Science advances 2022-04, Vol.8 (14), p.eabk0942
Hauptverfasser:	Giffen, Kimberlee P, Li, Yi, Liu, Huizhan, Zhao, Xiao-Chang, Zhang, Chang-Jun, Shen, Ren-Juan, Wang, Tianying, Janesick, Amanda, Chen, Bo-Bei, Gong, Shu-Sheng, Kachar, Bechara, Jin, Zi-Bing, He, David Z
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Transport System y+ - genetics Animals Cellular Neuroscience Hearing Loss, Central - metabolism Humans Lysosomes - metabolism Lysosomes - pathology Mammals Mice Mutation Neuroscience Retinitis Pigmentosa - genetics Retinitis Pigmentosa - metabolism SciAdv r-articles
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